Research Topics
Genomes and Genes
| Bernhard HorsthemkeSummaryAffiliation: University of Duisburg-Essen Country: Germany Publications
| Collaborators
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Detail Information
Publications
Parental origin and functional relevance of a de novo UBE3A variantBernhard Horsthemke
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45147 Essen, Germany
Eur J Med Genet 54:19-24. 2011..Our study may serve as a paradigm to determine the parental origin of a de novo mutation...- Mechanisms of imprint dysregulationBernhard Horsthemke
University of Duisburg Essen, Essen, Germany
Am J Med Genet C Semin Med Genet 154:321-8. 2010..The distinction between primary and secondary imprinting defects is important for assessing the recurrence risk in affected families... - Mechanisms of imprinting of the Prader-Willi/Angelman regionBernhard Horsthemke
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Am J Med Genet A 146:2041-52. 2008..Imprinting defects affecting the PWS/AS region can arise from failure to demethylate the PWS-SRO in the male germ line, from failure to methylate the maternal PWS-SRO, or from failure to maintain PWS-SRO methylation after fertilization... 
Somatic mosaicism in patients with Angelman syndrome and an imprinting defectHülya Nazlican
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandtrasse 55, G 45122 Essen, Germany
Hum Mol Genet 13:2547-55. 2004..In conclusion, we suggest that the role of mosaic imprinting defects in mental retardation is underestimated...
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndromeDeniz Kanber
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Eur J Hum Genet 17:582-90. 2009..2). This patient is obese and mentally retarded, but does not have PWS. We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS...- Low frequency of imprinting defects in ICSI children born small for gestational ageDeniz Kanber
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Eur J Hum Genet 17:22-9. 2009.... - C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brainKarin Buiting
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
Genomics 89:588-95. 2007..Reinvestigation of C15orf2 revealed that this gene is also expressed in fetal brain and that expression in this tissue is monoallelic. We conclude that PWRN1 and C15orf2 may play a role in PWS... - SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndromeMaren Runte
Institut fur Humangenetik, Universitaetsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
Hum Genet 114:553-61. 2004..Our findings are compatible with the assumption that imprinted UBE3A expression is regulated through the SNURF-SNRPN sense- UBE3A antisense transcript... - Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene clusterKarin Buiting
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Hum Mutat 29:1141-6. 2008..These findings demonstrate that the upd(14)mat phenotype is caused by altered expression of genes within this cluster... - Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15Corinna Zogel
, , Essen, Germany
Eur J Hum Genet 14:752-8. 2006..028). Our findings suggest that women with the IC haplotype H-AS3 or homozygosity for the MTHFR 677C>T variant may have an increased risk of conceiving a child with an imprinting defect, although the absolute risk is low... - Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesisMichaela Wawrzik
Institut fur Humangenetik, Universitatsklinikum Essen, Germany
Eur J Hum Genet 17:1463-70. 2009.... - Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic facesTobias Vollmar
Institut fur Humangenetik, Universitat Duisburg Essen, Hufelandstrasse 55, 45122 Essen, Germany
Eur J Med Genet 51:44-53. 2008..Geometry performs excellently with 85% for combined poses. Combination of wavelets and geometry for both poses increases accuracy to 93%. In conclusion, a larger number of syndromes can be handled effectively by means of image analysis... - EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylationLisa C Neumann
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr, 55, 45157 Essen, Germany
BMC Cancer 11:380. 2011.... - Automated syndrome detection in a set of clinical facial photographsStefan Boehringer
Institut fur Humangenetik, Universitaetsklinikum Essen, Germany
Am J Med Genet A 155:2161-9. 2011..In order to further this goal, a software package is made available that allows application of the procedures and contributions toward an improved data set... - Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndromeMaren Runte
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122, Essen, Germany
Hum Genet 116:228-30. 2005..However, we cannot exclude the possibility that the loss of HBII-52 has a phenotypic effect when accompanied by the loss of function of other genes in 15q11-q13... - Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genesBernhard Horsthemke
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
Hum Mol Genet 12:2723-32. 2003.... - Imprinting of RB1 (the new kid on the block)Karin Buiting
Institut fur Humangenetik, D 45122 Essen, Germany
Brief Funct Genomics 9:347-53. 2010..The imprinting of two components of the same pathway indicates that there has been strong evolutionary selection for maternal inhibition of cell proliferation... - The human retinoblastoma gene is imprintedDeniz Kanber
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
PLoS Genet 5:e1000790. 2009..The imprinting of two components of the same pathway indicates that there has been strong evolutionary selection for maternal inhibition of cell proliferation... - The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selectionMichaela Wawrzik
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Neurogenetics 11:153-61. 2010..These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to PWS... - Genomic imprinting and imprinting defects in humansBernhard Horsthemke
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
Adv Genet 61:225-46. 2008..IC mutations affect the establishment or maintenance of genomic imprints and hence the expression of all imprinted genes controlled by this IC. Imprinting defects play a causal role in several recognizable syndromes... - Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incompleteMichael Zeschnigk
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Hum Mol Genet 18:1439-48. 2009..Remarkably, methylation of X-chromosomal CGIs in female blood cells was most often incomplete (25-75%). Such incomplete methylation was mainly found on the X-chromosome, suggesting that it is linked to X-chromosome inactivation... - Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndromeDagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
Hum Genet 121:369-76. 2007..0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352-367, 1968)... - IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasiaMichael Zeschnigk
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Eur J Hum Genet 16:328-34. 2008..Furthermore, we show that methylation analysis by QAMA and MLPA is more sensitive in detecting ICR1 hypomethylation than Southern blot analysis of CTS3... - Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defectKarin Buiting
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Am J Hum Genet 72:571-7. 2003..These data suggest that this imprinting defect results from a failure to erase the maternal imprint during spermatogenesis... - The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levelsTea Berulava
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Eur J Hum Genet 18:1054-6. 2010..We also observed skewed allelic expression of the RPGRIP1L gene in blood, but skewing was independent of the FTO genotype. Our data suggest that increased expression of FTO is associated with increased body mass... - Assisted reproduction: the epigenetic perspectiveBernhard Horsthemke
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Hum Reprod Update 11:473-82. 2005..In addition, loss of epigenetic control may expose hidden genetic variation... - The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated proteinLisa C Neumann
Institut fur Humangenetik, Universitatsklinikum Essen, D 45122 Essen, Germany
Hum Mol Genet 21:4038-48. 2012..These experiments for the first time demonstrate that C15orf2 is part of the NPC or its associated molecular networks. Based on our findings, we propose 'Nuclear pore associated protein 1' as the new name for C15orf2... - Loss of heterozygosity of 1p in uveal melanomas with monosomy 3Thomas Häusler
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Int J Cancer 116:909-13. 2005..On the basis of our data and published cytogenetic data, we propose that 1p31 harbors genes involved in the progression of uveal melanoma with monosomy 3... - Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the Heinz Nixdorf recall cohortSonali Pechlivanis
Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg Essen, Essen, Germany
Arterioscler Thromb Vasc Biol 30:1867-72. 2010.... - FTO levels affect RNA modification and the transcriptomeTea Berulava
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Eur J Hum Genet 21:317-23. 2013..We conclude that altered levels of FTO have multiple and diverse consequences on RNA modifications and the transcriptome... - Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestationSandrine Gratias
Department of Human Genetics, University of Duisburg-Essen, Essen, Germany
Int J Cancer 116:555-63. 2005..The genes on 1q with copy number gains and overexpression are candidates that need to be tested for their individual contribution to the progression of Rb... - An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistanceAmla Kuechler
Institut fur Humangenetik, Universitatsklinikum, Universitat Duisburg Essen, Essen, Germany
Eur J Hum Genet 18:656-61. 2010..This coincidence of two rare changes caused clinical signs consistent with FSH resistance... - Syndrome identification based on 2D analysis softwareStefan Boehringer
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Eur J Hum Genet 14:1082-9. 2006.... - Hormone-induced delayed ovulation affects early embryonic developmentAnn Kathrin Bittner
Institute of Molecular Biology, University Hospital Essen, University Duisburg Essen, Essen, Germany
Fertil Steril 95:2390-4. 2011..To analyze the effects of delayed ovulation on embryonic development in mice, because intrafollicular oocyte development may be delayed during assisted reproductive technology (ART) treatment in humans... - Aging of Xenopus tropicalis eggs leads to deadenylation of a specific set of maternal mRNAs and loss of developmental potentialAnna Kosubek
Institut für Zellbiologie Tumorforschung, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
PLoS ONE 5:e13532. 2010..Based on this hypothesis the developmental consequences of downregulation of specific transcripts can be analyzed in future... - The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factorFrank J Kaiser
Institut fur Humangenetik, Universitatsklinikum, Hufelandstrasse 55, D 45122 Essen, Germany
J Biol Chem 278:38780-5. 2003..Using a luciferase reporter assay, we could demonstrate that the repressional function of TRPS1 is inhibited by RNF4. This finding suggests that RNF4 is a negative regulator of TRPS1 activity... - Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signalFrank J Kaiser
, , Hufelandstr 55, Essen D-45122, Germany
Eur J Hum Genet 12:121-6. 2004..In contrast, a mutant that lacks the conserved GATA-type zinc-finger domain and most of the LRRRRG motif is able to enter the nucleus... - Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrumSven Fischer
, , 45122 Essen, Germany
Hum Mol Genet 15:581-7. 2006..Prolonged cell culture or treatment with the histone deacetylase inhibitor Trichostatin A led to reactivation of the downregulated allele. We propose that epigenetic dysregulation of BAPX1 plays an important role in OAVS... - Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1Frank J Kaiser
Institut fur Humangenetik, Universitatsklinikum, Hufelandstr 55, D 45122 Essen, Germany
Hum Mol Genet 12:1349-58. 2003..In addition, GATA-regulated reporter gene assay indicated that LC8a is able to suppress the transcriptional repression activity of TRPS1... - Problems in detecting mosaic DNA methylation in Angelman syndromeBernhard Horsthemke
Eur J Hum Genet 11:913-5. 2003 - Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndromeEva Wey
Institute of Medical Genetics, University of Zurich, Switzerland
Eur J Hum Genet 13:273-7. 2005..Apart from a rather normal facial appearance, the proband has typical features of PWS... - Intracytoplasmic sperm injection may increase the risk of imprinting defectsGerald F Cox
Children's Hospital, Boston, MA 02115, USA
Am J Hum Genet 71:162-4. 2002..We discuss the possibility that ICSI may interfere with the establishment of the maternal imprint in the oocyte or pre-embryo... - Maintenance of imprinting and nuclear architecture in cycling cellsKathrin Teller
Department of Biology II, Ludwig Maximilians University, Grosshadernerstrasse 2, 82152 Planegg Martinsried, Germany
Proc Natl Acad Sci U S A 104:14970-5. 2007.... - Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocationPaweł Stankiewicz
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 140:442-52. 2006..In silico analysis of breakpoint regions revealed the presence of highly identical low-copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation... - Heritable germline epimutations in humansBernhard Horsthemke
Nat Genet 39:573-4; author reply 575-6. 2007 - Computer-based recognition of dysmorphic facesHartmut S Loos
, , Germany
Eur J Hum Genet 11:555-60. 2003..Our results prove that certain syndromes are associated with a specific facial pattern and that this pattern can be described in mathematical terms... - Rhythm is not enoughBernhard Horsthemke
Nat Genet 39:1190-1. 2007 - Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nucleiJoachim Rauch
Kirchhoff Institute of Physics, University of Heidelberg, Im Neuenheimer Feld 227, D 69120 Heidelberg, Germany
Differentiation 76:66-82. 2008..The possibilities to achieve this goal are discussed...